Renal Coloboma Syndrome

Preferred Label : Renal Coloboma Syndrome;

NCIt related terms : Papillorenal Syndrome;

Alternative definition : NICHD: A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract.;

Details

Origin ID

C123230;

UMLS CUI

C1852759;

Currated CISMeF NLP mapping
- Papillorenal syndrome [MeSH concept]
- Papillorenal syndrome [ICD-11 More detail]
- Papillorenal syndrome [OMIM Phenotype]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome [ORDO Disease]
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
- papillorenal syndrome [MeSH Supplementary Concept]
- papillorenal syndrome [Disease (Nov.)]
- renal coloboma syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillorenal syndrome [OMIM Phenotype]
- Papillorenal syndrome [MeSH concept]
- Renal coloboma syndrome [ORDO Disease]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
- papillorenal syndrome [MeSH Supplementary Concept]
- papillorenal syndrome [Disease (Nov.)]
- renal coloboma syndrome [DO Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_mapped_to_gene
- PAX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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